L-2-hydroxglutaric aciduria L2-HGA


  
Disease name

 L-2-hydroxyglutaric aciduria

Test name

L2HGA

Concerned breed

Staffordshire Bull Terrier

Description of the disease

Nerometabolic disorder characerised by elevated level of L-2-hydroxyglutaric acid in urine, plasma and cerebrospinal fluid.

Symptom

"wobbly" gait, tremors , muscle stiffness and dementia.
Age of appearance

From 3 - 5 years

Transmission

Autosomal

Expression

Recessive

Frequency

30%





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